Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1382Q

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.H1382Q
c.4146C>G
Surrounding Variants
1 paper
NM_001127208.3
p.H1382Q
c.4146C>A
1 paper
NM_001127208.3
p.R1383_T1393delFs
c.4147_4177del31
1 paper
NM_001127208.3
p.R1383_T1393del11
c.4147_4178del33
17 papers
NM_001127208.3
p.H1382R
c.4145A>G
4 papers
NM_001127208.3
p.R1383G
c.4147A>G
1 paper
NM_001127208.3
p.R1383*
c.4147A>T
1 paper
NM_001127208.3
p.H1382N
c.4144C>A
3 papers
NM_001127208.3
p.H1382D
c.4144C>G
17 papers
NM_001127208.3
p.H1382Y
c.4144C>T
1 paper
NM_001127208.3
p.R1383K
c.4148G>A
1 paper
NM_001127208.3
p.R1383S
c.4149A>C
1 paper
NM_001127208.3
p.R1383S
c.4149A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."